Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, ...including 36 SCDs during youth.
We sought to identify the genetic cause of CPVT in this family, to preventively treat and clinically characterize the mutation-positive individuals, and to functionally characterize the pathogenic mechanisms of the mutation.
Genetic testing was performed for 1404 relatives. Mutation-positive individuals were preventively treated with β-blockers and clinically characterized with a serial exercise treadmill test (ETT) and Holter monitoring. In vitro functional studies included caffeine sensitivity and store overload-induced calcium release activity of the mutant channel in HEK293 cells.
We identified the p.G357S_RyR2 mutation, in the cardiac ryanodine receptor, in 179 family members and in 6 SCD cases. No SCD was observed among treated mutation-positive individuals over a median follow-up of 37 months; however, 3 relatives who had refused genetic testing (confirmed mutation-positive individuals) experienced SCD. Holter monitoring did not provide relevant information for CPVT diagnosis. One single ETT was unable to detect complex cardiac arrhythmias in 72% of mutation-positive individuals, though the serial ETT improved the accuracy. Functional studies showed that the G357S mutation increased caffeine sensitivity and store overload-induced calcium release activity under conditions that mimic catecholaminergic stress.
Our study supports the use of genetic testing to identify individuals at risk of SCD to undertake prophylactic interventions. We also show that the pathogenic mechanisms of p.G357S_RyR2 appear to depend on β-adrenergic stimulation.
Two hundred twenty-eight patients with successful coronary stent implantation were randomized either to protamine administration and femoral sheath removal (group I, n = 117) or no heparin ...neutralization and delayed sheath removal (group II, n = 111). The hospital stay after treatment was shorter in patients receiving protamine; therefore, protamine use for neutralizing circulating heparin may be safely administered immediately after stent implantation.
Methods A clinical protocol of treatment and follow-up was offered to all family members, based in exercise stress tests (ET) every 3 months, with an objective of maximum heart rate less than ...theoretical 80% and the absence of ventricular arrhythmias, increasing or changing betablockers to achieve it.
Background Catecholaminergic polymorphic ventricular tachycardia is an inherited disorder characterized by adrenergically mediated ventricular arrhythmias causing sudden cardiac death in young ...individuals with structurally normal hearts and normal basal ECG.
There is little literature on the use of face masks in a treadmill test (TMT) during the COVID-19 pandemic. The objective of this study is to analyse the impact of face masks during a TMT performed ...during the pre-pandemic (without face mask) and post-pandemic (with face mask) era.
Retrospective observational unicentric study of patients undergoing TMT. The inclusion criterion were being over 16 years old and having performed at least one TMT in the pre-pandemic and post-pandemic period.
One thousand six hundred fifty-five patients were included in the study. 935 (56.5%) were men and 720 (43.5%) women. The mean age was 57.3 ± 14.9 and the mean follow-up time was 15.4 months. 53% patients had arterial hypertension, 20% dyslipidemia, 12% diabetes mellitus, 8% smoking habit, 19% personal history of ischemic heart disease, 5% COPD, 8% bronchial asthma, and 8% atrial fibrillation. In almost all the variables studied in PE, including the appearance of ventricular arrhythmias, no significant differences were found, neither by age nor sex, except for the existence of a very slight decrease in exercise capacity with mask use in older patients (>65 years).
The use of surgical or FFP2 face masks during the TMT did not affect functional capacity, blood pressure, heart rate, or increased ventricular arrhythmias.
Existe poca literatura sobre el uso de la mascarilla en la realización de una prueba de esfuerzo (PE) durante la pandemia de COVID-19.El objetivo de este estudio es analizar el impacto del uso de la mascarilla durante la realización de una PE en un grupo de pacientes que han realizado al menos una PE con y sin mascarilla.
Estudio observacional retrospectivo unicéntrico de pacientes sometidos a una PE con tapiz rodante. El criterio de inclusión fue tener más de 16 años y haber realizado al menos una PE en época prepandemia (sin mascarilla) y postpandemia (con mascarilla).
Un total de 1655 pacientes fueron incluidos en el estudio. 935 (56.5%) eran varones y 720 (43.5%) mujeres. La edad media fue de 57.3 ± 14.9 y el tiempo medio de seguimiento fue de 15,4 meses. 53% pacientes presentaron antecedentes personales de hipertensión arterial, 20% dislipemia, 12% diabetes mellitus, 8% hábito tabáquico, 19% cardiopatía isquémica, 5% EPOC, 8% asma bronquial y 8% fibrilación auricular. En la casi totalidad de las variables estudiadas en la PE, incluida la aparición de arritmias ventriculares, no se evidenciaron diferencias significativas, ni por edad ni sexo, salvo la existencia de una muy leve disminución en la capacidad de ejercicio con el uso de mascarilla en los pacientes de mayor edad (>65 años).
El uso de mascarillas quirúrgicas o FFP2 durante la PE no afectó a la capacidad funcional, la tensión arterial, la frecuencia cardiaca ni incrementó las arritmias ventriculares.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease characterized by ventricular arrhythmias (VA) triggered in a situation of physical or emotional stress ...in young people with structurally normal heart.
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